gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2132404T>A , CM000673.2:g.2132404T>A | GRCh38 |
| NC_000011.9:g.2153634T>A , CM000673.1:g.2153634T>A | GRCh37 |
| NC_000011.8:g.2110210T>A | NCBI36 |
| NG_008849.1:g.22200A>T | |
| NG_050578.1:g.33806A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643349.2:c.*1178A>T | ENSP00000495715.1:n.*1178A>T | |
| ENST00000695541.1:c.*583A>T (IGF2) | ENSP00000511997.1:n.*583A>T | |
| ENST00000416167.7:c.*583A>T (IGF2) MANE Select | ENSP00000414497.2:n.*583A>T | |
| ENST00000643349.1:c.*1178A>T | ENSP00000495715.1:n.*1178A>T | |
| ENST00000381395.5:c.*583A>T (IGF2) | ENSP00000370802.1:n.*583A>T | |
| ENST00000381406.8:c.*583A>T (IGF2) | ENSP00000370813.4:n.*583A>T | |
| ENST00000416167.6:c.*583A>T (IGF2) | ENSP00000414497.2:n.*583A>T | |
| NM_000612.5:c.*583A>T (IGF2) | NP_000603.1:n.*583A>T | |
| NM_001007139.5:c.*583A>T (IGF2) | NP_001007140.2:n.*583A>T | |
| NM_001127598.2:c.*583A>T (IGF2) | NP_001121070.1:n.*583A>T | |
| NM_001291861.2:c.*583A>T (IGF2) | NP_001278790.1:n.*583A>T | |
| NM_001291862.2:c.*583A>T (IGF2) | NP_001278791.1:n.*583A>T | |
| NR_003512.3:n.1840A>T (INS-IGF2) | ||
| NM_000612.6:c.*583A>T (IGF2) MANE Select | NP_000603.1:n.*583A>T | |
| NM_001127598.3:c.*583A>T (IGF2) | NP_001121070.1:n.*583A>T | |
| NM_001291861.3:c.*583A>T (IGF2) | NP_001278790.1:n.*583A>T | |
| NM_001291862.3:c.*583A>T (IGF2) | NP_001278791.1:n.*583A>T | |
| NR_003512.4:n.1840A>T (INS-IGF2) | ||
| NM_001007139.6:c.*583A>T (IGF2) | NP_001007140.2:n.*583A>T |